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science & technology (17) 17
gene expression (15) 15
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1. Full Text Annotation-free quantification of RNA splicing using LeafCutter
by Li, Yang I and Knowles, David A and Humphrey, Jack and Barbeira, Alvaro N and Dickinson, Scott P and Im, Hae Kyung and Pritchard, Jonathan K
Nature genetics, ISSN 1061-4036, 01/2018, Volume 50, Issue 1, pp. 151 - 158
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Sequence Analysis, RNA - methods | Animals | Alternative Splicing | Disease - genetics | Introns | Molecular Sequence Annotation | Gene Expression Profiling | Software | Quantitative Trait Loci | Transcription | Splicing | Identification methods | mRNA processing | Population studies | Identification | Genomes | Gene expression | Ribonucleic acid--RNA | Complexity | Quantitative trait loci | Annotations | Bioinformatics | Methods | Index Medicus
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2. Full Text Opportunities and challenges for transcriptome-wide association studies
by Wainberg, Michael and Sinnott-Armstrong, Nasa and Mancuso, Nicholas and Barbeira, Alvaro N and Knowles, David A and Golan, David and Ermel, Raili and Ruusalepp, Arno and Quertermous, Thomas and Hao, Ke and Bjorkegren, Johan L. M and Im, Hae Kyung and Pasaniuc, Bogdan and Rivas, Manuel A and Kundaje, Anshul
Nature genetics, ISSN 1061-4036, 04/2019, Volume 51, Issue 4, pp. 592 - 599
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Crohn Disease - genetics | Genetic Predisposition to Disease - genetics | Schizophrenia - genetics | Humans | Genetic Variation - genetics | Transcriptome - genetics | Genome-Wide Association Study - methods | Lipoproteins, LDL - genetics | Quantitative Trait Loci - genetics | Mental disorders | Disease | Genes | Health risks | Schizophrenia | Crohn's disease | Genomes | Gene expression | Loci | Cholesterol | Case studies | Quantitative trait loci | Data sets | Gene loci | Causality | Gene mapping | Index Medicus
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3. Full Text Cancer expression quantitative trait loci (eQTLs) can be determined from heterogeneous tumor gene expression data by modeling variation in tumor purity
by Geeleher, Paul and Nath, Aritro and Wang, Fan and Zhang, Zhenyu and Barbeira, Alvaro N and Fessler, Jessica and Grossman, Robert L and Seoighe, Cathal and Stephanie Huang, R
Genome Biology, ISSN 1474-7596, 09/2018, Volume 19, Issue 1, pp. 130 - 130
Expression quantitative trait locus (eQTL) | Genome-wide association study (GWAS) | Deconvolution | Gene regulation | Cancer | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Neoplasms - metabolism | Gene Expression | Genome-Wide Association Study | Humans | Carcinogenesis - genetics | Tumor Microenvironment | Genotype | Models, Statistical | Breast Neoplasms - metabolism | Genetic Variation | Breast Neoplasms - genetics | Neoplasms - genetics | Computer Simulation | Female | Quantitative Trait Loci | Fibroblasts - metabolism | Genomics | Breast cancer | Genomes | Gene expression | Estimates | Quantitative trait loci | Studies | Genotype & phenotype | Biopsy | Fibroblasts | Mathematical models | Bioinformatics | Tumors | Index Medicus
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4. Full Text Sn-spMF: Matrix factorization informs tissue-specific genetic regulation of gene expression
by He, Yuan and Chhetri, Surya B and Arvanitis, Marios and Srinivasan, Kaushik and Aguet, François and Ardlie, Kristin G and Barbeira, Alvaro N and Bonazzola, Rodrigo and Im, Hae Kyung and Brown, Christopher D and Battle, Alexis and GTEx Consortium
Genome Biology, ISSN 1474-7596, 09/2020, Volume 21, Issue 1, pp. 235 - 235
Tissue-specific eQTLs | Transcription factors | Matrix factorization | Ubiquitous eQTLs | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Consortia | Quantitative trait loci | Brain | Sparsity | Etiology | Gene regulation | Gene expression | Genotypes | Index Medicus
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5. Full Text Fine‐mapping and QTL tissue‐sharing information improves the reliability of causal gene identification
by Barbeira, Alvaro N and Melia, Owen J and Liang, Yanyu and Bonazzola, Rodrigo and Wang, Gao and Wheeler, Heather E and Aguet, François and Ardlie, Kristin G and Wen, Xiaoquan and Im, Hae K
Genetic epidemiology, ISSN 0741-0395, 11/2020, Volume 44, Issue 8, pp. 854 - 867
QTL integration | GWAS | PrediXcan | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Mathematical & Computational Biology | Quantitative trait loci | Genomes | Prediction models | Ribonucleic acid--RNA | Gene mapping | Linkage disequilibrium | Index Medicus
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6. Full Text Integrating predicted transcriptome from multiple tissues improves association detection
by Barbeira, Alvaro N and Pividori, Milton and Zheng, Jiamao and Wheeler, Heather E and Nicolae, Dan L and Im, Hae Kyung
PLoS genetics, ISSN 1553-7404, 01/2019, Volume 15, Issue 1, pp. e1007889 - e1007889
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Expression - genetics | Humans | Software - statistics & numerical data | Polymorphism, Single Nucleotide - genetics | Transcriptome - genetics | Genome-Wide Association Study - statistics & numerical data | Quantitative Trait Loci - genetics | Quantitative trait loci | Genome-wide association studies | Messenger RNA | Physiological aspects | Genetic aspects | Research | Tissues | Quantitative genetics | Genomes | Health aspects | Genes | Therapeutic applications | Cardiovascular disease | Gene expression | Generalized linear models | Medicine | Studies | Genotype & phenotype | Coronary vessels | Genetics | Software | Gene loci | Vascular endothelial growth factor | Methods | Index Medicus
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7. Full Text Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx
by Gay, Nicole R and Gloudemans, Michael and Antonio, Margaret L and Abell, Nathan S and Balliu, Brunilda and Park, YoSon and Martin, Alicia R and Musharoff, Shaila and Rao, Abhiram S and Aguet, Francois and Barbeira, Alvaro N and Bonazzola, Rodrigo and Hormozdiari, Farhad and Ardlie, Kristin G and Brown, Christopher D and Im, Hae Kyung and Lappalainen, Tuuli and Wen, Xiaoquan and Montgomery, Stephen B and GTEx Consortium
Genome biology, ISSN 1474-760X, 09/2020, Volume 21, Issue 1, pp. 233 - 233
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Genotype & phenotype | Sample size | Population | Population structure | Population studies | Genomes | Gene expression | Gene mapping | Genotypes | Index Medicus | Colocalization | GTEx | eQTL | Local ancestry | Admixture
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8. Full Text Imputed gene associations identify replicable trans‐acting genes enriched in transcription pathways and complex traits
by Wheeler, Heather E and Ploch, Sally and Barbeira, Alvaro N and Bonazzola, Rodrigo and Andaleon, Angela and Fotuhi Siahpirani, Alireza and Saha, Ashis and Battle, Alexis and Roy, Sushmita and Im, Hae Kyung
Genetic epidemiology, ISSN 0741-0395, 09/2019, Volume 43, Issue 6, pp. 596 - 608
complex trait genetics | trans‐eQTL | genetic prediction | gene expression | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Mathematical & Computational Biology | Genetic Association Studies | Humans | Gene Expression Regulation | Trans-Activators - genetics | Transcriptome | Transcription, Genetic | Chromosome Mapping | Genome, Human | Quantitative Trait Loci | Cardiovascular Diseases - genetics | Multifactorial Inheritance | Quantitative genetics | Anopheles | Genes | Genetic research | Genetic aspects | Genetic transcription | Nucleic acids | Quantitative trait loci | Gene regulation | Genetic diversity | Gene expression | Variation | Gene mapping | Chromosomes | Genotypes | Binding sites | Index Medicus
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9. Full Text Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
by Barbeira, Alvaro N and Bonazzola, Rodrigo and Gamazon, Eric R and Liang, Yanyu and Park, YoSon and Kim-Hellmuth, Sarah and Wang, Gao and Jiang, Zhuoxun and Zhou, Dan and Hormozdiari, Farhad and Liu, Boxiang and Rao, Abhiram and Hamel, Andrew R and Pividori, Milton D and Aguet, François and Bastarache, Lisa and Jordan, Daniel M and Verbanck, Marie and Do, Ron and Stephens, Matthew and Ardlie, Kristin and McCarthy, Mark and Montgomery, Stephen B and Segrè, Ayellet V and Brown, Christopher D and Lappalainen, Tuuli and Wen, Xiaoquan and Im, Hae Kyung and GTEx Consortium and GTEx GWAS Working Group
Genome biology, ISSN 1474-7596, 01/2021, Volume 22, Issue 1, pp. 49 - 49
Consortia | Datasets | Hypotheses | Disease | Genomes | Random variables | Ribonucleic acid--RNA | Gene expression | Index Medicus
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10. Full Text Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
by Zheng, Jiamao and Wheeler, Heather E and Torres, Jason M and Stahl, Eli A and Aguet, François and Ardlie, Kristin G and Li, Xiao and MacArthur, Daniel G and Nedzel, Jared L and Tukiainen, Taru and Abell, Nathan S and Balliu, Brunilda and Basha, Omer and Battle, Alexis and Castel, Stephane E and Chen, Lin S and Chiang, Colby and Conrad, Donald F and Damani, Farhan N and Davis, Joe R and Dermitzakis, Emmanouil T and Engelhardt, Barbara E and Frésard, Laure and Gloudemans, Michael J and Guigo, Roderic and He, Yuan and Howald, Cedric and Jo, Brian and Kim-Hellmuth, Sarah and Li, Gen and Li, Xin and McCarthy, Mark I and McDowell, Ian C and Mohammadi, Pejman and Oliva, Meritxell and Panousis, Nikolaos and Papasaikas, Panagiotis and Payne, Anthony J and Peterson, Christine B and Quan, Jie and Reverter, Ferran and Shabalin, Andrey A and Sodaei, Reza and Stranger, Barbara E and Strober, Benjamin J and Tsang, Emily K and Wang, Gao and Wen, Xiaoquan and Wright, Fred A and Yeger-Lotem, Esti and Zappala, Zachary and Zhou, Yi-Hui and Bates, Daniel and Claussnitzer, Melina and Demanelis, Kathryn and Diegel, Morgan and Doherty, Jennifer A and Haugen, Eric and Jasmine, Farzana and Johnson, Audra and Kibriya, Muhammad G and Lee, Kristen and Li, Jin Billy and Li, Qin and Lin, Jessica and Lin, Shin and Linder, Sandra and Linke, Caroline and Neri, Fidencio J and Pierce, Brandon L and Sandstrom, Richard and Skol, Andrew and Van Wittenberghe, Nicholas and Wu, Fan and Nierras, Concepcion R and Guan, Ping and Rao, Abhi and Vaught, Jimmie B and Martin, Casey and Little, A. Roger and Johns, Christopher and Leinweber, William F and Myer, Kevin and Walters, Gary and Washington, Michael and Wheeler, Joseph and Bridge, Jason and Karasik, Ellen and Kumar, Rachna and Moser, Michael T and Rohrer, Daniel C and Undale, Anita H and Mosavel, Maghboeba and Ruffier, Magali and Taylor, Kieron and Zerbino, Daniel R and Rosenbloom, Kate R and Vivian, John and Zhu, Jingchun and Im, Hae Kyung and GTEx Consortium
Nature communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1825 - 20
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic Variation | Gene Expression | Meta-Analysis as Topic | Phenotype | Chromosome Mapping - methods | Computer Simulation | Humans | Models, Genetic | Polymorphism, Single Nucleotide | Genome-Wide Association Study - statistics & numerical data | Organ Specificity | Quantitative Trait Loci | Genetic variance | Statistical analysis | Robustness (mathematics) | Etiology | Genes | Phenotypic variations | Regulatory mechanisms (biology) | Statistical methods | Gene expression | Tissues | Gene mapping | Index Medicus | Genome-wide association studies | Data integration
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